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Elizabeth J. Brown, MD |
Focal segmental glomerulosclerosis (FSGS), the second leading cause of kidney failure in children, forces patients onto dialysis and, all too often, kidney transplant—only to recur in the transplanted kidney, sometimes within hours. Beyond strong immunosuppressants, which are only partially effective, treatments have only been guesses, because the underlying cause has been a mystery.
Now, a genetic study led by Elizabeth J. Brown, MD, of Children’s Hospital Boston’s Division of Nephrology, sheds new light on FSGS and brings hope for better options. With collaborators at Brigham and Women’s Hospital, Dr. Brown did a linkage analysis in two large families with FSGS and pinpointed a variety of mutations in the gene INF2. The team then sequenced the same gene in other families, finding mutations in 11 of 93 families studied (Nature Genetics online, December 20, 2009).
Other genes have been linked with FSGS, but Dr. Brown and William E. Harmon, MD, chief of Nephrology, think INF2 is an important find. It seems to affect a larger number of families, and may explain how the disease occurs. INF2’s protein regulates actin, a protein that helps maintain cell architecture. Both proteins are abundant in kidney podocytes. The researchers think that when INF2 is mutated, the structure and function of these toxin-filtering cells are disrupted—an abnormality they hope could someday be countered.
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